A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929089



Internal ID22704337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55252968..55253136hg38UCSC Ensembl
chr19:55764336..55764504hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403820
Samples
Known GenesPPP6R1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929089
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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